¨A doença de Huntington (DH) é uma doença neurodegenerativa autossômica dominante classificada entre as coreias. Sua gênese está na repetição exagerada do trinucleotídeo CAG no braço curto do cromossomo 4(4p16.3). Além de sintomas motores, a DH é caracterizada por sintomas cognitivos e comportamentais que impactam na capacidade funcional dos pacientes. A progressão dos sintomas neuropsiquiátricos e déficits cognitivos ocorre paralelamente à neurodegeneração. A natureza desses sintomas é muito dinâmica, sendo que os desafios clínicos mais comuns incluem disfunção executiva, apatia, depressão e irritabilidade. É uma doença genética que provoca a destruição progressiva dos neurônios no cérebro humano. Os sintomas psiquiátricos, como agitação, sintomas depressivos, maniformes, delírios e alucinações, podem ocorrer em até 50% dos casos antes das manifestações neurológicas. O achado de atrofia do núcleo caudado em exames de neuroimagem sugere o diagnóstico de DH, mas a confirmação diagnóstica é realizada pela pesquisa genética da expansão do CAG com 40 ou mais repetições. O exame genético positivo apresenta 100% de especificidade e 98,8% de sensibilidade. A DH deteriora progressivamente as habilidades físicas e mentais humanas, e é incurável. O tratamento é sintomático e realizado em bases empíricas. Quanto maior a ação bloqueadora do receptor dopaminérgico D2, maior o efeito anti-coréico; porém, o uso de antipsicóticos típicos pode induzir ou exacerbar sinais extrapiramidais. Assim, o uso de antipsicóticos atípicos têm sido recomendado.¨
■ Exercise in Huntington´s disease: current state and clinical significance
Sandro Manuel Mueller, Jens A. Petersen, Hans H. Jung
Tremor Other Hyperkinet Mov (N Y) 2019; 9: 601
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377806/
■ New directions in therapeutics for Huntington disease
Katya T Potkin, Steven G Potkin
Future Neurol. 2018 May; 13(2): 101–121
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6378950/
■ Clinical management of neuropsychiatric symptoms of Huntington disease: Expert-based consensus guidelines on agitation, anxiety, psychosis and sleep disorders
Karen E. Anderson, Erik van Duijn, David Craufurd et al
J Huntingtons Dis. 2018; 7(4): 355–366.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6294590/
■ Understanding the need for assistance with survey completion in people with Huntington disease
Elizabeth A. Hahn, Nancy R. Downing, Julie C. Stout et al
Qual Life Res. 2018 Mar; 27(3): 801–810
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5845783/
■ Baseline multimodal information predicts future motor impairment in premanifest Huntington´s disease
Eduardo Castro, Pablo Polosecki, Irina Rish, et al
Neuroimage Clin. 2018; 19: 443–453.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6029560/
■ Patient-reported outcome measures in Huntington disease: neuro-QoL social functioning measures
Noelle E. Carlozzi, Elizabeth A. Hahn, Siera M. Goodnight et al
Psychol Assess. 2018 Apr; 30(4): 450–458
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5708162/
■ Huntington´s disease in a patient misdiagnosed as conversion disorder
J M Nogueira, A M Franco, A Valadas et al
Case Rep Psychiatry. 2018; 2018: 3915657
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5835269/
■ Agreement between clinician-rated versus patient-report outcomes in Huntington disease
Noelle E. Carlozzi, Nicholas R. Boileau, Joel S. Perlmutter, et al
J Neurol. 2018 Jun; 265(6): 1443–1453.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992091/
■ Therapy development in Huntington disease: from current stategies to emerging opportunities
Audrey S. Dickey, Albert R. La Spada
Am J Med Genet A. 2018 Apr; 176(4): 842–86
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5975251/
■ A new measure for end of life planning, preparation, and preferences in Huntigton disease: HDQLIFE End of life planning
N.E. Carlozzi, E.A. Hahn, S. Frank, J.S. Perlmutter, et al
J Neurol. 2018 Jan; 265(1): 98–107
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5762414/
■ What do we know about late onset Huntington´s disease?
Sai S. Chaganti, Elizabeth A. McCusker, Clement T. Loy
J Huntingtons Dis. 2017; 6(2): 95–103
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5502838/
■ Diffusion tensor imaging of brain white matter in Huntington gene mutation individuals
Saba, Roberta Arb et al.
Arq. Neuro-Psiquiatr., Aug 2017, vol.75, no.8, p.503-508
■ RNAi mecanisms in Huntington´s disease: siRNA versus shRNA
Sebastian Aguiar, Bram van der Gaag, Francesco Albert Bosco Cortese
Transl Neurodegener. 2017; 6: 30
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5702971/
■ Absense of acanthocytosis in Huntington´s disease-like 2: a prospective comparison with Huntington´s Disease
David G. Anderson, Sergio Carmona, Kubendran Naidoo et al
Tremor Other Hyperkinet Mov (N Y) 2017; 7: 512
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5721130/
■ Palliative care in Huntington disease: personal reflections and a review of the literature
Christopher G. Tarolli, Amy M. Chesire, Kevin M. Biglan
Tremor Other Hyperkinet Mov (N Y) 2017; 7: 454
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5395679/
■ Association between motor symptoms and brain metabolism in early Huntington disease
Véronique Gaura, Sonia Lavisse, Pierre Payoux et al
JAMA Neurol. 2017 Sep; 74(9): 1088–109
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■ Longitudinal psychiatric symptoms progress in prodromal Hungtington disease: a decade of data
Eric A. Epping, Ji-In Kim, David Craufurd, et al
the PREDICT-HD Investigators and Coordinators of the Huntington Study Group
Am J Psychiatry. 2016 Feb 1; 173(2): 184–192
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5465431/
■ Revisiting the neuropsychiatry of Huntington’s disease.
Teixeira, Antonio Lucio et al.
Dement. neuropsychol., Dec 2016, vol.10, no.4, p.261-266
■ Cell-based technologies for Huntington’s disease.
Haddad, Mônica Santoro et al.
Dement. neuropsychol., Dec 2016, vol.10, no.4, p.287-295
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1980-57642016000400287&lng=pt&nrm=iso
■ Apenas mais um acidente de trabalho?: Relato de um caso clínico de coreia de Huntington
Cunha, Hugo Taveira and Lopes, Filipa Borges
Rev Port Med Geral Fam, Abr 2016, vol.32, no.2, p.110-116
http://www.scielo.mec.pt/scielo.php?script=sci_arttext&pid=S2182-51732016000200005&lng=en&nrm=iso
■ Mid- and long-term anxiety levels associated with presymptomatic testing of Huntington’s disease, Machado-Joseph disease, and familial amyloid polyneuropathy
Lêdo, Susana et al.
Rev. Bras. Psiquiatr., June 2016, vol.38, no.2, p.113-120
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-44462016000200113&lng=pt&nrm=iso
■ Swallowing endoscopy findings in Huntington’s disease: a case report.
Alves, Thaís Coelho et al.
CoDAS, Aug 2016, vol.28, no.4, p.486-488
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2317-17822016000400486&lng=pt&nrm=iso
■ Huntington disease: a single-gene degenerative disorder of the striatum
Peggy C. Nopoulos
Dialogues Clin Neurosci. 2016 Mar; 18(1): 91–98.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4826775/
■ Prenatal testing in Huntington disease: after the test, choices recommence
Hanane Bouchghoul, Stéphane-Françoise Clément, Danièle Vauthier et a
Eur J Hum Genet. 2016 Nov; 24(11): 1535–1540
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110058/
■ Polysomnographic findings and clinical correlates in Huntington disease: a cross-sectional cohort study
Carla Piano, Anna Losurdo, Giacomo Della Marca et al
Sleep. 2015 Sep 1; 38(9): 1489–1495
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4531417/
■ Comportamento, competência social e qualidade de vida na Doença de Huntington
Silva, Caroline Stephanie da, Lindau, Tâmara Andrade and Giacheti, Célia Maria
Rev. CEFAC, Dez 2015, vol.17, no.6, p.1792-1801
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-18462015000801792&lng=pt&nrm=iso
■ Everyday cognition in prodromal Huntington disease
Janet K. Williams, Ji-In Kim, Nancy Downing et al
the PREDICT-HD Investigators and Coordinators of the HuntingtonStudy Group
Neuropsychology. 2015 Mar; 29(2): 255–267
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4286521/
■ Prediction of manifest Huntington disease with clinical and imaging measures: a 12-year prospective observational study
Jane S. Paulsen, Jeffrey D. Long, Christopher A. Ross et al
the PREDICT-HD Investigators and Coordinators of the Huntington Study Grou
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■ Aspectos clínicos e fisiopatológicos da doença de Huntington
A Martelli
Archives of Health Investigation 2014, vol 3 (4)
http://www.archhealthinvestigation.com.br/ArcHI/article/view/687
■ Care of patients with Huntington’s disease in South America: a survey.
Maciel, Ricardo Oliveira Horta et al.
Arq. Neuro-Psiquiatr., June 2013, vol.71, no.6, p.368-370
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2013000600368&lng=pt&nrm=iso
■ Careful clinical observation is essential for diagnosis of Huntington’s disease
Nakamura, Ken et al.
Arq. Neuro-Psiquiatr., Aug 2012, vol.70, no.8, p.646-646
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2012000800021&lng=pt&nrm=iso
■ Language impairment in Huntington’s disease
Azambuja, Mariana Jardim et al.
Arq. Neuro-Psiquiatr., June 2012, vol.70, no.6, p.410-415
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2012000600006&lng=pt&nrm=iso
■ Doença de Huntington: uma revisão dos aspectos fisiopatológicos
J M Gil-Mohapel, A C Rego
Rev Neurocienc 2011, vol 19 (4); 724-734
http://www.revistaneurociencias.com.br/edicoes/2011/RN1904/revisao%2019%2004/595%20revisao.pdf
■ Huntington’s disease presenting as posterior cortical atrophy
Caixeta, L.
Arq. Neuro-Psiquiatr., 2011, vol.69, no.2b, p.407-40
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2011000300029&lng=pt&nrm=iso
■ Clinical and genetic analysis of 29 Brazilian patients with Huntington’s disease-like phenotype
Rodrigues, Guilherme Riccioppo et al.
Arq. Neuro-Psiquiatr., June 2011, vol.69, no.3, p.419-423
■ Huntington´s disease: a clinical review
R A C Roos
Orphanet J Rare Dis 2010, vol 5: 40
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■ Doença de Huntington: relato de caso com história familial negativa e atenuação das manifestações psiquiátricas com o uso de olanzapina.
Coelho, Vívian Andrade Araújo et al.
Rev. Bras. Psiquiatr., Jun 2009, vol.31, no.2, p.186-188
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-44462009000200020&lng=pt&nrm=iso
■ Diagnóstico genético disponible para la enfermedad de Huntington en chile
Pérez P, Carolina, Miranda C, Marcelo and Segura-Aguilar, Juan
Rev. méd. Chile, Ago 2009, vol.137, no.8, p.1128-1129
https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872009000800022&lng=es&nrm=iso
■ Semantic, phonologic, and verb fluency in Huntington’s disease
Azambuja, Mariana Jardim et al.
Dement. neuropsychol., Dec 2007, vol.1, no.4, p.381-385
■ Non-choreic movement disorders as initial manifestations of Huntington’s diseas
Becker, Nilson et al.
Arq. Neuro-Psiquiatr., June 2007, vol.65, no.2b, p.402-40
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2007000300007&lng=pt&nrm=iso
■ Dr Paulo Fernando Leite
Cardiologia/Prevenção Cardiovascular
Estratificação de Risco Cardiovascular
Novo endereço:
Consultório: Rua Padre Rolim 815/sala 815
Tel: 33245518 (Consulta Particular/Unimed)
– Centro Médico Unimed BH/Contagem/Pedro I
Belo Horizonte/MG/Brasil
CRMMG: 7026
Email: pfleite1873@gmail.com